Bestrophin
Bestrophin is a family of proteins that are encoded by the BEST1 gene in humans. These proteins are known to be involved in the regulation of cellular volume. Mutations in this gene are associated with vitelliform macular dystrophy, a type of eye disorder.
Function[edit | edit source]
Bestrophin proteins are thought to function as calcium-activated chloride channels. They are involved in the regulation of cellular volume, which is crucial for maintaining the structural integrity of cells.
Clinical significance[edit | edit source]
Mutations in the BEST1 gene are associated with a number of eye disorders, including vitelliform macular dystrophy, adult-onset vitelliform macular dystrophy, and autosomal recessive bestrophinopathy. These conditions are characterized by the accumulation of yellowish deposits in the macula, which can lead to vision loss.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- GeneReviews/NCBI/NIH/UW entry on Bestrophinopathy, Autosomal Recessive
- OMIM entries on Bestrophinopathy, Autosomal Recessive
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